U.S. flag

An official website of the United States government

NM_001195248.2(APTX):c.457A>G (p.Lys153Glu) AND Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 22, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003611551.1

Allele description [Variation Report for NM_001195248.2(APTX):c.457A>G (p.Lys153Glu)]

NM_001195248.2(APTX):c.457A>G (p.Lys153Glu)

Gene:
APTX:aprataxin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p21.1
Genomic location:
Preferred name:
NM_001195248.2(APTX):c.457A>G (p.Lys153Glu)
HGVS:
  • NC_000009.12:g.32987570T>C
  • NG_012821.2:g.42562A>G
  • NM_001195248.2:c.457A>GMANE SELECT
  • NM_001195249.2:c.457A>G
  • NM_001195250.2:c.295A>G
  • NM_001195251.2:c.457A>G
  • NM_001195252.2:c.267+190A>G
  • NM_001195254.2:c.295A>G
  • NM_001368995.1:c.457A>G
  • NM_001368996.1:c.457A>G
  • NM_001368997.1:c.457A>G
  • NM_001368998.1:c.457A>G
  • NM_001368999.1:c.457A>G
  • NM_001369000.1:c.295A>G
  • NM_001369001.1:c.295A>G
  • NM_001369002.1:c.193A>G
  • NM_001369003.1:c.193A>G
  • NM_001369004.1:c.193A>G
  • NM_001369005.1:c.193A>G
  • NM_001369006.1:c.193A>G
  • NM_001370669.1:c.193A>G
  • NM_001370670.1:c.193A>G
  • NM_001370673.1:c.193A>G
  • NM_175069.3:c.457A>G
  • NM_175073.3:c.457A>G
  • NP_001182177.2:p.Lys153Glu
  • NP_001182178.1:p.Lys153Glu
  • NP_001182179.2:p.Lys99Glu
  • NP_001182180.1:p.Lys153Glu
  • NP_001182183.1:p.Lys99Glu
  • NP_001355924.1:p.Lys153Glu
  • NP_001355925.1:p.Lys153Glu
  • NP_001355926.1:p.Lys153Glu
  • NP_001355927.1:p.Lys153Glu
  • NP_001355928.1:p.Lys153Glu
  • NP_001355929.1:p.Lys99Glu
  • NP_001355930.1:p.Lys99Glu
  • NP_001355931.1:p.Lys65Glu
  • NP_001355932.1:p.Lys65Glu
  • NP_001355933.1:p.Lys65Glu
  • NP_001355934.1:p.Lys65Glu
  • NP_001355935.1:p.Lys65Glu
  • NP_001357598.1:p.Lys65Glu
  • NP_001357599.1:p.Lys65Glu
  • NP_001357602.1:p.Lys65Glu
  • NP_778239.2:p.Lys153Glu
  • NP_778243.1:p.Lys153Glu
  • NC_000009.11:g.32987568T>C
  • NM_175073.2:c.457A>G
  • NR_036577.2:n.408A>G
  • NR_160920.1:n.523A>G
  • NR_160921.1:n.427A>G
  • NR_160922.1:n.658A>G
  • NR_160923.1:n.462A>G
  • NR_160924.1:n.467A>G
  • NR_160925.1:n.663A>G
  • NR_160926.1:n.453A>G
  • NR_160927.1:n.773A>G
  • NR_160928.1:n.663A>G
  • NR_160929.1:n.577A>G
  • NR_160930.1:n.403A>G
  • NR_160931.1:n.642A>G
Protein change:
K153E
Links:
dbSNP: rs34634937
NCBI 1000 Genomes Browser:
rs34634937
Molecular consequence:
  • NM_001195252.2:c.267+190A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195248.2:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195249.2:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195250.2:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195251.2:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195254.2:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368995.1:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368996.1:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368997.1:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368998.1:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368999.1:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369000.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369001.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369002.1:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369003.1:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369004.1:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369005.1:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369006.1:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370669.1:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370670.1:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370673.1:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175069.3:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175073.3:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_036577.2:n.408A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160920.1:n.523A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160921.1:n.427A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160922.1:n.658A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160923.1:n.462A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160924.1:n.467A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160925.1:n.663A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160926.1:n.453A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160927.1:n.773A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160928.1:n.663A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160929.1:n.577A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160930.1:n.403A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160931.1:n.642A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Synonyms:
Ataxia-oculomotor apraxia syndrome; Ataxia-telangiectasia-like syndrome; Early-onset cerebellar ataxia with hypoalbuminemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008842; MedGen: C1859598; Orphanet: 1168; OMIM: 208920

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004562870ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Likely benign
(Nov 22, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004562870.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024